Recombinant Human Sialic acid synthase (NANS)

Uniprot Id

Q9NR45

Target Species

Human

Target Name

NANS

Target Full Name

N-acetylneuraminate-9-phosphate synthase

Target Function

Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). Can also use N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively.

Target Involvement

Spondyloepimetaphyseal dysplasia, Genevieve type (SEMDG)

Target Tissue Specificity

Ubiquitous.

Target Synonyms

EC 2.5.1.56; EC 2.5.1.57; N acetylneuraminate 9 phosphate synthase; N acetylneuraminate synthase; N acetylneuraminic acid phosphate synthase; N acetylneuraminic acid synthase; N-acetylneuraminate synthase; N-acetylneuraminate-9-phosphate synthase; N-acetylneuraminic acid phosphate synthase; N-acetylneuraminic acid synthase; NANS; OTTHUMP00000021769; SAS; Sialic acid phosphate synthase; Sialic acid synthase; SIAS_HUMAN

Target Background

This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant.